Autosomal recessive axonal neuropathy with neuromyotonia

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Synonyms: ARAN-NM | ARCMT2-NM | Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia

A rare peripheral neuropathy characterized by slowly progressive axonal motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia) impaired muscle relaxation (pseudomyotonia) and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment muscle stiffness fasciculations and cramps in hands and legs worsened by cold decreased to absent tendon reflexes intrinsic hand muscle atrophy and variably mild distal sensory impairment.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Autosomal recessive axonal neuropathy with neuromyotonia?

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Advocacy Organizations

Hereditary Neuropathy Foundation

Hereditary Neuropathy Foundation (HNF) is a non-profit 501(c)3 organization which mission is to increase awareness and accurate diagnosis of Charcot-Marie-Tooth (CMT) and related inherited neuropathies, support patients and families with critical information to improve quality of life, and fund research that will lead to treatments and cures.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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